Comprehensive Brain Malformations Panel

Concurrent analysis of multiple genes associated with structural brain malformations. 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of brain malformations
  • Genetic counseling

Test Details

Genes

ACTB, ACTG1, ADGRG1, AHI1, AKT3, AMPD2, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B9D1, B9D2, C5orf42, CASK, CC2D2A, CCND2, CEP104, CEP120, CEP290, CEP41, CHMP1A, CIT, CSPP1, CUL4B, DCHS1, DCX, DYNC1H1, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KATNB1, KIAA0586, KIF1BP, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE1, MKS1, NDE1, NEDD4L, NPHP1, NPHP3, OCLN, OFD1, OPHN1, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN15, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62

Conditions

  • Alpha-Dystroglycanopathies
  • COACH Syndrome
  • Cortical Brain Malformations
  • Joubert Syndrome
  • Lissencephaly
  • Meckel-Gruber Syndrome
  • Oral-Facial Digital Type 6
  • Periventricular Nodular Heterotopia
  • Polymicrogyria
  • Pontocerebellar Hypoplasia (PCH)
  • Walker–Warburg Syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 691
CPT Codes*: 81403x1, 81404x2, 81405x2, 81406x2, 81407x1, 81408x1, 81479x3
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs